Revel Score:
ENST00000439430
0.190
ENST00000334232 (MANE Select)
0.190
ENST00000359362
0.190
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03438932 (MID)
Genomes Max Group AF
0.0294016 (NFE)
Exomes Max Group AF
0.03417587 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236482309C>T , CM000663.2:g.236482309C>T | GRCh38 |
| NC_000001.10:g.236645609C>T , CM000663.1:g.236645609C>T | GRCh37 |
| NC_000001.9:g.234712232C>T | NCBI36 |
| NG_011566.1:g.92930C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334232.9:c.308C>T MANE Select | ENSP00000335076.4:p.Ser103Phe | |
| ENST00000359362.6:c.278C>T | ENSP00000352320.4:p.Ser93Phe | |
| ENST00000637660.1:c.242C>T | ENSP00000490347.1:p.Ser81Phe | |
| ENST00000642595.1:c.236-9428C>T | ENSP00000494458.1:n.236-9428C>T | |
| ENST00000334232.8:c.308C>T | ENSP00000335076.4:p.Ser103Phe | |
| ENST00000359362.5:c.278C>T | ENSP00000352320.4:p.Ser93Phe | |
| ENST00000439430.5:c.242C>T | ENSP00000405815.1:p.Ser81Phe | |
| NM_080738.3:c.278C>T | NP_542776.1:p.Ser93Phe | |
| NM_145861.2:c.308C>T | NP_665860.2:p.Ser103Phe | |
| NM_080738.4:c.278C>T | NP_542776.1:p.Ser93Phe | |
| NM_145861.4:c.308C>T MANE Select | NP_665860.2:p.Ser103Phe |